ClinVar Miner

Submissions for variant NM_032730.5(RTN4IP1):c.52del (p.Cys18fs)

dbSNP: rs1776734650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227219 SCV001399569 pathogenic not provided 2022-07-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 954709). This variant has not been reported in the literature in individuals affected with RTN4IP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys18Alafs*30) in the RTN4IP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RTN4IP1 are known to be pathogenic (PMID: 26593267).

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